Article
Lynch syndrome-associated chordoma with high tumor mutational burden and significant response to immune checkpoint inhibitors.
Brain tumor pathology - 1 Jul 2023
Shinojima Naoki, Ozono Kazutaka, Yamamoto Haruaki, Abe Sakiko, Sasaki Rumi, Tomita Yusuke, Kai Azusa, Mori Ryosuke, Yamamoto Takahiro, Uekawa Ken, Matsui Hirotaka, Nosaka Kisato, Matsuzaki Hiroaki, Komohara Yoshihiro, Mikami Yoshiki, Mukasa Akitake
Abstract excerpt
Chordoma is a rare malignant bone tumor arising from notochordal tissue. Conventional treatments, such as radical resection and high-dose irradiation, frequently fail to control the tumor, resulting in recurrence and re-growth. In this study, genetic analysis of the tumor in a 72-year-old male patient with refractory conventional chordoma of the skull base revealed a high tumor mutational burden (TMB) and...
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